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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:inflammatory bowel disease 10
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Accession:DOID:0110885 term browser browse the term
Definition:An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: IBD10;   INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 10
 related_synonym: Inflammatory bowel disease 10, susceptibility to
 primary_id: MESH:C567021
 alt_id: OMIM:611081;   RDO:0015210
For additional species annotation, visit the Alliance of Genome Resources.


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inflammatory bowel disease 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg16l1 autophagy related 16-like 1 ISO ClinVar Annotator: match by term: Inflammatory bowel disease 10, susceptibility to OMIM
ClinVar
PMID:17200669, PMID:17435756, PMID:18438405, PMID:18852889, PMID:19337756, PMID:24553140, PMID:27273576 NCBI chr 9:94,879,876...94,915,231
Ensembl chr 9:94,879,745...94,915,228
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      gastrointestinal system disease 4671
        intestinal disease 1495
          inflammatory bowel disease 335
            inflammatory bowel disease 10 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Immune & Inflammatory Diseases 3508
        Inflammation 2161
          gastroenteritis 408
            inflammatory bowel disease 335
              inflammatory bowel disease 10 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.